1. Genes and Genomic Entities
  2. RNU2-2P

RNU2-2P

RNA, U2 small nuclear 2, pseudogene
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green RNU2-2P in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RNU2-2-related neurodevelopmental disorder with seizures and hyperventilation
    • MONDO:0100038
    Tags
    • new-gene-name
    Amber RNU2-2P in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • epilepsy, MONDO:0005027
    Tags
    • new-gene-name
    • locus-type-rna-small-nuclear
    • dd_review
    • Q2_25_ promote_green
    Amber RNU2-2P in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • intellectual disability, MONDO:0001071
    Tags
    • new-gene-name
    • locus-type-rna-small-nuclear
    • dd_review
    • Q2_25_ promote_green